ClinVar Miner

Variants in gene FKRP with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
179 50 0 23 18 0 5 42

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 13 3 1 1
likely pathogenic 13 0 2 0 0
uncertain significance 3 2 0 16 4
likely benign 1 0 16 0 10
benign 1 0 4 10 0

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP
NM_024301.4(FKRP):c.1020C>T (p.Tyr340=) rs77351928
NM_024301.4(FKRP):c.1027G>C (p.Glu343Gln) rs587780334
NM_024301.4(FKRP):c.1140G>A (p.Gly380=) rs552260353
NM_024301.4(FKRP):c.1141dup (p.Ala381Glyfs) rs754403441
NM_024301.4(FKRP):c.1154C>T (p.Ser385Leu) rs104894680
NM_024301.4(FKRP):c.1177G>A (p.Val393Ile) rs140679502
NM_024301.4(FKRP):c.1179A>G (p.Val393=) rs145894568
NM_024301.4(FKRP):c.1343C>T (p.Pro448Leu) rs104894681
NM_024301.4(FKRP):c.135C>T (p.Ala45=) rs2287717
NM_024301.4(FKRP):c.1405C>T (p.Leu469=) rs143129484
NM_024301.4(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800
NM_024301.4(FKRP):c.1440C>T (p.Asn480=) rs115365212
NM_024301.4(FKRP):c.1486T>A (p.Ter496Arg) rs104894682
NM_024301.4(FKRP):c.160C>T (p.Arg54Trp) rs28937905
NM_024301.4(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024301.4(FKRP):c.266C>T (p.Pro89Leu) rs770711331
NM_024301.4(FKRP):c.336C>T (p.Ala112=) rs1054339656
NM_024301.4(FKRP):c.341C>G (p.Ala114Gly) rs143793528
NM_024301.4(FKRP):c.400C>T (p.Arg134Trp) rs104894690
NM_024301.4(FKRP):c.427C>A (p.Arg143Ser) rs148206382
NM_024301.4(FKRP):c.483C>T (p.Ala161=) rs797045576
NM_024301.4(FKRP):c.520A>T (p.Ser174Cys) rs200990647
NM_024301.4(FKRP):c.531G>A (p.Glu177=) rs768007208
NM_024301.4(FKRP):c.545A>G (p.Tyr182Cys) rs543163491
NM_024301.4(FKRP):c.567C>T (p.Pro189=) rs201454433
NM_024301.4(FKRP):c.582G>A (p.Leu194=) rs771223960
NM_024301.4(FKRP):c.606G>A (p.Leu202=) rs140084192
NM_024301.4(FKRP):c.636G>A (p.Ala212=) rs370099812
NM_024301.4(FKRP):c.675delG (p.Thr226Profs) rs886043706
NM_024301.4(FKRP):c.696G>T (p.Ala232=) rs398124394
NM_024301.4(FKRP):c.740C>A (p.Pro247Gln) rs528000488
NM_024301.4(FKRP):c.77G>A (p.Trp26Ter) rs752731569
NM_024301.4(FKRP):c.822C>G (p.Ile274Met) rs77138370
NM_024301.4(FKRP):c.823C>T (p.Arg275Cys) rs1247934219
NM_024301.4(FKRP):c.885C>T (p.Arg295=) rs769005880
NM_024301.4(FKRP):c.899T>C (p.Val300Ala) rs104894691
NM_024301.4(FKRP):c.919T>A (p.Tyr307Asn) rs104894692
NM_024301.4(FKRP):c.928G>T (p.Glu310Ter) rs765885747
NM_024301.4(FKRP):c.946C>A (p.Pro316Thr) rs28937901
NM_024301.4(FKRP):c.954C>T (p.Cys318=) rs755968761
NM_024301.4(FKRP):c.969C>T (p.Arg323=) rs532054402
NM_024301.4(FKRP):c.970G>T (p.Glu324Ter) rs886044183

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